Skip to content

Prion Protein Gene Mutation Screening (Blood)

Published: August 9, 2026Updated: August 16, 2026

This test checks for genetic changes in the prion protein gene, which may increase your risk of certain rare neurological conditions like Creutzfeldt-Jakob disease (CJD).

Quick summary

["Genetic screening for prion protein mutations can help identify potential risks for inherited prion diseases."]

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
81868-2
Short code
PRNP gene Mut Anl Bld/T
Synonyms
PRNP gene Mut Anl Bld/T
Category
chemistry
Sample
whole-blood
Container
Lavender-top (EDTA)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
molgen
Specimen volume
3 mL
Stability
Room temperature: 4h, Refrigerated: 24h
Hemolysis max
0
Lipemia max
0
Icterus max
0
TAT
4–24 hours
Order
routine

Why This Test Might Be Ordered

Your healthcare provider may recommend this test if you have a family history of prion diseases, certain neurological symptoms, or if you’re part of a group at higher genetic risk. It’s also sometimes done as part of a broader genetic evaluation for unexplained neurological concerns.

What to Expect Before the Test

No special preparation is needed. A blood sample will be taken from a vein in your arm, similar to other blood tests. You may feel a slight pinch, but it’s usually over quickly. If you’re pregnant or have a bleeding disorder, let your provider know before the test.

What the Test Measures

This test looks for specific mutations in the PRNP gene, which codes for the prion protein—a protein involved in brain function. Mutations in this gene can lead to abnormal protein folding, potentially causing prion diseases.

Possible Results and Next Steps

If mutations are found, your provider will discuss next steps, which may include genetic counseling, monitoring for symptoms, or additional testing. If no mutations are detected, it doesn’t rule out other causes of your symptoms.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

Prion Gene Test

Frequently asked questions

What does a positive result mean?
A positive result means you have a confirmed mutation in the prion protein gene. This increases your risk of developing a prion disease later in life, but symptoms may not appear until adulthood or later. Your healthcare provider will work with you to understand your risks and next steps, such as genetic counseling.
What if my test result is negative?
A negative result means no detectable mutations were found in the prion protein gene tested. However, prion diseases can sometimes be sporadic (not inherited), so other causes of your symptoms may still need investigation. Follow-up with your provider if you have ongoing concerns.
How often should I get this test?
This test is typically done once, unless you have a strong family history of prion diseases or new symptoms that warrant further genetic evaluation. Regular monitoring by your healthcare provider will help address any ongoing concerns.
  1. 1
    MedlinePlus — Laboratory TestsSource
  2. 2
    Lab Tests OnlineSource
  3. 3
    Mayo Clinic — Tests & ProceduresSource

Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy